Sorahia Domenice, Aline Zamboni Machado, Frederico Moraes Ferreira, Bruno Ferraz-de-Souza, Antonio Marcondes Lerario, Lin Lin, Mirian Yumie Nishi, Nathalia Lisboa Gomes, Thatiana Evelin da Silva, Rosana Barbosa Silva, Rafaela Vieira Correa, Luciana Ribeiro Montenegro, Amanda Narciso, Elaine Maria Frade Costa, John C Achermann, Berenice Bilharinho Mendonca
Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI)...
December 2016: Birth Defects Research. Part C, Embryo Today: Reviews